ClinVar Miner

Submissions for variant NM_005188.3(CBL):c.2513G>T (p.Gly838Val) (rs144191570)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500878 SCV000593865 uncertain significance not specified 2016-10-26 criteria provided, single submitter clinical testing
Invitae RCV000529564 SCV000659115 uncertain significance Rasopathy 2019-01-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 838 of the CBL protein (p.Gly838Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs144191570, ExAC 0.02%). This variant has not been reported in the literature in individuals with CBL-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761809 SCV000892010 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing

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